Canonical Allele Identifier: CA2493963731
Gene: ABCG8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43875380G= , CM000664.2:g.43875380G= GRCh38
NC_000002.11:g.44102519G= , CM000664.1:g.44102519G= GRCh37
NC_000002.10:g.43956023G= NCBI36
NG_008884.1:g.41417G=
NG_008884.2:g.48439G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1723G= MANE Select ENSP00000272286.2:p.Gly575=
ENST00000272286.2:c.1723G= ENSP00000272286.2:p.Gly575=
NM_022437.2:c.1723G= NP_071882.1:p.Gly575=
XM_005264483.2:c.1720G= XP_005264540.1:p.Gly574=
XM_011533029.1:c.1735G= XP_011531331.1:p.Gly579=
XM_011533030.1:c.1732G= XP_011531332.1:p.Gly578=
XM_011533031.1:c.1507G= XP_011531333.1:p.Gly503=
XR_939707.1:n.2225G=
NM_001357321.1:c.1720G= NP_001344250.1:p.Gly574=
XM_011533029.2:c.1735G= XP_011531331.1:p.Gly579=
XM_011533030.2:c.1732G= XP_011531332.1:p.Gly578=
XR_001738891.1:n.2239G=
XR_939707.2:n.2239G=
NM_022437.3:c.1723G= MANE Select NP_071882.1:p.Gly575=
NM_001357321.2:c.1720G= NP_001344250.1:p.Gly574=